Canonical Allele Identifier: CA1663115496
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129349633_129349637delinsGTATA , CM000668.2:g.129349633_129349637delinsGTATA GRCh38
NC_000006.11:g.129670778_129670782delinsGTATA , CM000668.1:g.129670778_129670782delinsGTATA GRCh37
NC_000006.10:g.129712471_129712475delinsGTATA NCBI36
NG_008678.1:g.471493_471497delinsGTATA , LRG_409:g.471493_471497delinsGTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.4523+249_4523+253delinsGTATA ENSP00000481744.2:n.4523+249_4523+253delinsGTATA
ENST00000618192.5:c.4787+249_4787+253delinsGTATA ENSP00000480802.2:n.4787+249_4787+253delinsGTATA
ENST00000692206.1:n.172+249_172+253delinsGTATA
ENST00000693425.1:n.49+249_49+253delinsGTATA
ENST00000421865.3:c.4523+249_4523+253delinsGTATA MANE Select ENSP00000400365.2:n.4523+249_4523+253delinsGTATA
ENST00000421865.2:c.4523+249_4523+253delinsGTATA ENSP00000400365.2:n.4523+249_4523+253delinsGTATA
ENST00000617695.4:c.4523+249_4523+253delinsGTATA ENSP00000481744.1:n.4523+249_4523+253delinsGTATA
ENST00000618192.4:c.4523+249_4523+253delinsGTATA ENSP00000480802.1:n.4523+249_4523+253delinsGTATA
NM_000426.3:c.4523+249_4523+253delinsGTATA , LRG_409t1:c.4523+249_4523+253delinsGTATA NP_000417.2:n.4523+249_4523+253delinsGTATA
NM_001079823.1:c.4523+249_4523+253delinsGTATA NP_001073291.1:n.4523+249_4523+253delinsGTATA
XM_005266981.2:c.4787+249_4787+253delinsGTATA XP_005267038.1:n.4787+249_4787+253delinsGTATA
XM_005266982.2:c.4787+249_4787+253delinsGTATA XP_005267039.1:n.4787+249_4787+253delinsGTATA
XM_011535820.1:c.4787+249_4787+253delinsGTATA XP_011534122.1:n.4787+249_4787+253delinsGTATA
XM_005266981.3:c.4787+249_4787+253delinsGTATA XP_005267038.1:n.4787+249_4787+253delinsGTATA
XM_005266982.3:c.4787+249_4787+253delinsGTATA XP_005267039.1:n.4787+249_4787+253delinsGTATA
XM_011535820.2:c.4787+249_4787+253delinsGTATA XP_011534122.1:n.4787+249_4787+253delinsGTATA
XM_017010851.2:c.4793+249_4793+253delinsGTATA XP_016866340.1:n.4793+249_4793+253delinsGTATA
XM_017010852.1:c.2918+249_2918+253delinsGTATA XP_016866341.1:n.2918+249_2918+253delinsGTATA
XM_017010853.1:c.4787+249_4787+253delinsGTATA XP_016866342.1:n.4787+249_4787+253delinsGTATA
NM_000426.4:c.4523+249_4523+253delinsGTATA MANE Select NP_000417.3:n.4523+249_4523+253delinsGTATA
NM_001079823.2:c.4523+249_4523+253delinsGTATA NP_001073291.2:n.4523+249_4523+253delinsGTATA